MODY probability calculator utility in individuals' selection for genetic testing: Its accuracy and performance.

ABSTRACT:

Introduction

MODY probability calculator (MPC) represents an easy-to-use tool developed by Exeter University to help clinicians prioritize which individuals should be oriented to genetic testing. We aimed to assess the utility of MPC in a Portuguese cohort with early-onset monogenic diabetes.

Methods

This single-centre retrospective study enrolled 132 participants submitted to genetic testing between 2015 and 2020. Automatic sequencing and, in case of initial negative results, generation sequencing were performed. MODY probability was calculated using the probability calculator available online. Positive and negative predictive values (PPV and NPV, respectively), accuracy, sensitivity and specificity of the calculator were determined for this cohort.

Results

Seventy-t

SUBMITTER: da Silva Santos T 

PROVIDER: S-EPMC9471596 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature